浙江大学儿科学英文 遗传代谢病.pdfVIP

先天愚型 Fu Jun Fen Children’s Hospital of Zhejiang University School of Medicine Angel babies Angel babies CONTENTS Overview of inheretance Chromosomal abnormalities Clinical manifestations of Down Syndrome Karyotypes and phenotypes of Down Syndrome Genetic counseling, prenatal diagnosis and prevention Patterns of inheritance Chromosomal abnormalities Single gene mutant: Autosomal recessive, or dominant, X-linked recessive ,or dominant Multifactori